Gene: PSMB8 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906680
rs387906680
PSMB8
0.800 GeneticVariation UNIPROT CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation. 26567544

2016
dbSNP: rs387906680
rs387906680
PSMB8
0.800 GeneticVariation UNIPROT Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. 26524591

2015
dbSNP: rs387906680
rs387906680
PSMB8
0.800 GeneticVariation UNIPROT Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. 21953331

2012
dbSNP: rs387906680
rs387906680
PSMB8
0.800 GeneticVariation UNIPROT Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. 21852578

2011
dbSNP: rs387906680
rs387906680
PSMB8
0.800 GeneticVariation UNIPROT A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 21881205

2011
dbSNP: rs387906680
rs387906680
PSMB8
0.800 GeneticVariation UNIPROT PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. 21129723

2010
dbSNP: rs387906680
rs387906680
PSMB8
A 0.800 CausalMutation CLINVAR

dbSNP: rs1554239543
rs1554239543
PSMB8 ; PSMB8-AS1
0.700 GeneticVariation UNIPROT CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation. 26567544

2016
dbSNP: rs1554239543
rs1554239543
PSMB8 ; PSMB8-AS1
0.700 GeneticVariation UNIPROT Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. 26524591

2015
dbSNP: rs1554239543
rs1554239543
PSMB8 ; PSMB8-AS1
0.700 GeneticVariation UNIPROT Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. 21953331

2012
dbSNP: rs1554239543
rs1554239543
PSMB8 ; PSMB8-AS1
0.700 GeneticVariation UNIPROT Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. 21852578

2011
dbSNP: rs1554239543
rs1554239543
PSMB8 ; PSMB8-AS1
0.700 GeneticVariation UNIPROT A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 21881205

2011
dbSNP: rs1554239543
rs1554239543
PSMB8 ; PSMB8-AS1
0.700 GeneticVariation UNIPROT PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. 21129723

2010
dbSNP: rs748082671
rs748082671
PSMB8 ; PSMB8-AS1
0.700 GeneticVariation UNIPROT